We have achieved 3 major accomplishments.1)determined the frequency of major neurological & respiratory complications, established guidelines for the anti cipatory care of young children, based on the correlations between lab findings & clinical observations.2)significant contributions to the identification of the gene by linkage mapping of the achondroplasia locus 3) established the frequency of the two most common mutations in FGFR3 in a large population (154 patients).
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